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R EPORTS Effects of Purifying and Adaptive Selection on Regional Variation

By In Human Mtdna, Eduardo Ruiz-pesini, Dan Mishmar, Martin Br, Vincent Procaccio and Douglas C. Wallace

Abstract

A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today. The human mtDNA exhibits dramatic, region-specific sequence variation in indigenous populations (1) (fig. S1). Although previously this was attributed to genetic drift (2)

Year: 2011
OAI identifier: oai:CiteSeerX.psu:10.1.1.186.5936
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